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What are the signs and symptoms of Bardet-Biedl syndrome?

Bardet-Biedl syndrome (BBS) affects many parts of the body, and signs and symptoms of the condition can vary among affected individuals. One of the major features of BBS is progressive vision loss due to deterioration of the retina. Typically, this begins in mid-childhood with problems with night vision and is followed by the development of blind spots in the peripheral vision. These blind spots become bigger with time and eventually merge to produce tunnel vision. Most individuals also develop blurred central vision and become legally blind by adolescence or early adulthood.[1]

Other major signs and symptoms of BBS include obesity (which can cause type 2 diabetes, high blood pressure, and abnormally high cholesterol levels); kidney abnormalities; the presence of extra fingers and/or toes (polydactyly); intellectual disability or learning problems; and abnormalities of the genitalia. Most affected males are infertile because they produce reduced amounts of sex hormones. Other characteristics of the condition may include impaired speech; delayed development of motor skills; behavioral problems; and poor coordination. Additional features that have been reported in some people with BBS include distinctive facial features; dental abnormalities; unusually short or fused fingers and/or toes; a partial or complete loss of the sense of smell (anosmia); and other abnormalities.[1]

Last updated: 10/3/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Abnormality of the kidney

95%

Abnormal electroretinogram

90%

Abnormality of retinal pigmentation

90%

Cognitive impairment

90%

Multicystic kidney dysplasia

90%

Obesity

90%

Postaxial hand polydactyly

90%

Micropenis

88%

Myopia

75%

Astigmatism

63%

Hypertension

50%

Hypoplasia of penis

50%

Nystagmus

50%

Polycystic ovaries

50%

Short stature

50%

Cataract

30%

Glaucoma

22%

Rod-cone dystrophy

8%

Abnormality of the ovary

7.5%

Cryptorchidism

7.5%

Finger syndactyly

7.5%

Hearing impairment

7.5%

Hepatic failure

7.5%

Hypertrichosis

7.5%

Low-set, posteriorly rotated ears

7.5%

Macrocephaly

7.5%

Medial flaring of the eyebrow

7.5%

Nephrotic syndrome

7.5%

Neurological speech impairment

7.5%

Prominent nasal bridge

7.5%

Short neck

7.5%

Vaginal atresia

7.5%

Aganglionic megacolon

5%

Asthma

-

Ataxia

-

Autosomal recessive inheritance

-

Biliary tract abnormality

-

Brachydactyly syndrome

-

Broad foot

-

Congenital primary aphakia

-

Decreased testicular size

-

Delayed speech and language development

-

Dental crowding

-

Diabetes mellitus

-

Foot polydactyly

-

Gait imbalance

-

Hepatic fibrosis

-

High palate

-

Hirsutism

-

Hypodontia

-

Hypogonadism

-

Intellectual disability

-

Left ventricular hypertrophy

-

Nephrogenic diabetes insipidus

-

Poor coordination

-

Radial deviation of finger

-

Retinal degeneration

-

Short foot

-

Specific learning disability

-

Strabismus

-

Syndactyly

-

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.